Attention geniuses! If you have MORE THAN ONE child with CH it is possible the thyroid dysfunction is due to a genetic mutation in the TSH-R gene. PLEASE PLEASE PLEASE if your doctor or endo is suggesting you “trial off” treatment, show them this article first. Trialing off could mean serious effects to your child.
This article is about a case where the first boy had a slight persistent increase of TSH (less than 10 μU/ml), normal thyroid ultrasound and did not show any signs or symptoms of mild hypothyroidism requiring L-T4 treatment. Conversely, the younger brother presented a moderate increase of TSH with serum levels persistently above 10 μU/ml with low normal serum FT4 concentrations, morphological thyroid anomalies with a mild thyroid hypoplasia. He needed to be treated in early infancy and relapsed when treatment was withdrawn.
“Patients with persistent non autoimmune hyperthyreotropinemia should be investigated for TSH-R gene, in particular in cases arising in familial settings, even though the majority of patients with an heterozygous TSH-R loss of function mutation have only mild SH generally not requiring any treatment. However, it should be mentioned that some cases may have a more severe clinical presentation with the need of lifelong treatment. Currently is not possible to predict the clinical presentation and the evolution of these patients based on genetic features.”